Mutagenetix > Incidental Mutation

Incidental Mutation 'R2504:Slc6a18'

252216

Institutional Source

Beutler Lab

Gene Symbol

Slc6a18

Ensembl Gene

ENSMUSG00000021612

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 18

Synonyms

XT2, D630001K16Rik, Xtrp2

MMRRC Submission

040412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2504 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73809871-73826142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73823925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 72 (Y72H)

Ref Sequence

ENSEMBL: ENSMUSP00000152146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022048] [ENSMUST00000022105] [ENSMUST00000109679] [ENSMUST00000109680] [ENSMUST00000220650] [ENSMUST00000222029] [ENSMUST00000221026] [ENSMUST00000221987] [ENSMUST00000223026] [ENSMUST00000223074]

AlphaFold

O88576

Predicted Effect

probably benign
Transcript: ENSMUST00000022048

SMART Domains

Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565

Domain	Start	End	E-Value	Type
Pfam:SNF	32	608	2.3e-180	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022105
AA Change: Y72H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612
AA Change: Y72H

Domain	Start	End	E-Value	Type
Pfam:SNF	17	593	2.1e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109679
AA Change: Y72H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612
AA Change: Y72H

Domain	Start	End	E-Value	Type
Pfam:SNF	17	511	6.8e-164	PFAM
low complexity region	513	526	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109680
AA Change: Y72H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612
AA Change: Y72H

Domain	Start	End	E-Value	Type
Pfam:SNF	17	325	2.1e-126	PFAM
Pfam:SNF	392	555	9.1e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132085

Predicted Effect

probably benign
Transcript: ENSMUST00000220650
AA Change: Y72H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000222029
AA Change: Y72H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000221026
AA Change: Y72H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000221987
AA Change: Y72H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000223026
AA Change: Y72H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000223074
AA Change: Y72H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,681 (GRCm39)	D28G	probably benign	Het
Abcg1	T	A	17: 31,311,369 (GRCm39)	S125T	probably damaging	Het
Actbl2	T	C	13: 111,392,717 (GRCm39)	S351P	possibly damaging	Het
Ankrd34b	A	G	13: 92,575,569 (GRCm39)		probably null	Het
BC051665	C	T	13: 60,930,468 (GRCm39)	V295I	probably benign	Het
C1qtnf2	A	G	11: 43,381,983 (GRCm39)	N265S	probably damaging	Het
Ccdc14	C	T	16: 34,542,220 (GRCm39)	R573*	probably null	Het
Cd55b	A	T	1: 130,337,612 (GRCm39)	Y247N	probably damaging	Het
Celsr2	A	T	3: 108,320,907 (GRCm39)	V635E	probably benign	Het
Clec16a	T	C	16: 10,377,551 (GRCm39)		probably benign	Het
Clec4b1	A	G	6: 123,042,904 (GRCm39)	Y41C	probably damaging	Het
Cntn5	A	T	9: 10,172,126 (GRCm39)	D19E	probably benign	Het
Cop1	A	G	1: 159,060,375 (GRCm39)	N53S	probably damaging	Het
Cplane1	G	A	15: 8,248,700 (GRCm39)	E1750K	probably damaging	Het
Csad	A	T	15: 102,097,102 (GRCm39)	M1K	probably null	Het
Cyb5rl	A	G	4: 106,938,142 (GRCm39)	I200V	probably benign	Het
Cyp26a1	A	G	19: 37,686,790 (GRCm39)	T81A	probably damaging	Het
Cyp2d12	A	T	15: 82,443,237 (GRCm39)	H433L	probably benign	Het
D7Ertd443e	T	A	7: 133,951,208 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,097,908 (GRCm39)		probably benign	Het
Dmap1	G	T	4: 117,532,495 (GRCm39)	T357K	probably damaging	Het
Dzip1	G	T	14: 119,118,456 (GRCm39)	T759K	probably benign	Het
Elmo2	A	G	2: 165,140,607 (GRCm39)	V300A	probably damaging	Het
Eml5	T	C	12: 98,810,364 (GRCm39)	D864G	possibly damaging	Het
Ep400	A	G	5: 110,816,511 (GRCm39)	V2670A	probably damaging	Het
Epha3	T	A	16: 63,423,988 (GRCm39)	I534F	probably damaging	Het
Epha4	A	C	1: 77,359,628 (GRCm39)	Y742D	probably damaging	Het
Ergic2	A	G	6: 148,106,272 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,536,545 (GRCm39)		probably null	Het
Fam229a	A	G	4: 129,385,279 (GRCm39)	D70G	probably damaging	Het
Fbn2	C	T	18: 58,226,431 (GRCm39)	R781Q	probably damaging	Het
Fbxo16	A	T	14: 65,508,163 (GRCm39)		probably benign	Het
Fbxo39	T	A	11: 72,208,111 (GRCm39)	S154R	probably benign	Het
Fer	T	A	17: 64,298,575 (GRCm39)		probably null	Het
Filip1l	A	T	16: 57,391,410 (GRCm39)	D428V	probably damaging	Het
Filip1l	A	G	16: 57,391,025 (GRCm39)	I538V	possibly damaging	Het
Fsip2	T	C	2: 82,809,954 (GRCm39)	I2091T	possibly damaging	Het
Glyat	A	C	19: 12,628,762 (GRCm39)	T186P	possibly damaging	Het
Gm10604	A	G	4: 11,980,083 (GRCm39)	S74P	unknown	Het
Gm4787	T	G	12: 81,425,911 (GRCm39)	K82N	possibly damaging	Het
Hectd4	T	C	5: 121,358,683 (GRCm39)	I50T	unknown	Het
Hectd4	T	C	5: 121,402,030 (GRCm39)	S373P	possibly damaging	Het
Hmcn1	A	T	1: 150,562,618 (GRCm39)	C2313*	probably null	Het
Hrob	T	C	11: 102,146,122 (GRCm39)	Y133H	possibly damaging	Het
Igfn1	A	T	1: 135,897,054 (GRCm39)	S1171T	probably benign	Het
Ints8	T	C	4: 11,241,642 (GRCm39)	D267G	probably benign	Het
Itln1	A	G	1: 171,356,727 (GRCm39)	C251R	probably damaging	Het
Jcad	C	T	18: 4,674,026 (GRCm39)	T596M	probably damaging	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kif13a	G	A	13: 46,967,676 (GRCm39)	T346M	probably damaging	Het
Klhl24	G	A	16: 19,938,917 (GRCm39)	A491T	probably benign	Het
Kntc1	C	T	5: 123,916,410 (GRCm39)	Q748*	probably null	Het
Krt25	T	A	11: 99,208,122 (GRCm39)	K369*	probably null	Het
Krt75	C	T	15: 101,476,466 (GRCm39)	R433Q	probably benign	Het
Krt76	A	G	15: 101,793,293 (GRCm39)	F582L	unknown	Het
Lysmd1	G	A	3: 95,045,708 (GRCm39)	V182I	probably benign	Het
Mab21l2	T	A	3: 86,454,862 (GRCm39)	E46V	probably damaging	Het
Magi2	A	T	5: 20,563,934 (GRCm39)	K355N	probably damaging	Het
Marchf10	T	C	11: 105,276,398 (GRCm39)	D630G	probably damaging	Het
Mast4	A	T	13: 102,875,147 (GRCm39)	I1215N	probably damaging	Het
Nckap1	G	A	2: 80,360,562 (GRCm39)	T523I	probably benign	Het
Nexmif	T	A	X: 103,127,999 (GRCm39)	D1306V	probably damaging	Het
Nfkb1	A	C	3: 135,295,090 (GRCm39)	I918R	possibly damaging	Het
Nt5el	A	G	13: 105,246,250 (GRCm39)	I270M	probably benign	Het
Nup50	A	T	15: 84,817,859 (GRCm39)	T93S	probably benign	Het
Nwd2	T	C	5: 63,961,717 (GRCm39)	Y434H	probably benign	Het
Or13a28	T	C	7: 140,218,397 (GRCm39)	V261A	probably benign	Het
Osbpl1a	C	A	18: 13,038,088 (GRCm39)	V288L	probably benign	Het
Pan3	A	G	5: 147,463,846 (GRCm39)	E562G	possibly damaging	Het
Pappa	T	A	4: 65,099,126 (GRCm39)	Y548*	probably null	Het
Phf3	A	T	1: 30,849,870 (GRCm39)	L1181Q	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pkhd1l1	T	C	15: 44,348,824 (GRCm39)	I240T	probably damaging	Het
Pole	G	A	5: 110,438,368 (GRCm39)		probably null	Het
Polq	T	A	16: 36,832,304 (GRCm39)	S15T	unknown	Het
Prrt2	T	C	7: 126,619,396 (GRCm39)	E23G	possibly damaging	Het
Prss37	A	T	6: 40,494,760 (GRCm39)		probably null	Het
Prune2	T	C	19: 16,977,400 (GRCm39)	L45P	probably damaging	Het
Psd	A	T	19: 46,313,352 (GRCm39)	M6K	possibly damaging	Het
Psmd1	A	G	1: 86,017,719 (GRCm39)	E510G	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Pxdn	T	A	12: 30,053,405 (GRCm39)	I1194N	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rgmb	C	A	17: 16,027,909 (GRCm39)	R270L	probably benign	Het
Rpgrip1l	A	G	8: 92,007,344 (GRCm39)		probably null	Het
Rps2	G	A	17: 24,939,353 (GRCm39)		probably benign	Het
Rsbn1l	G	T	5: 21,107,364 (GRCm39)	A550E	probably damaging	Het
S1pr4	C	T	10: 81,335,138 (GRCm39)	R112H	probably benign	Het
Scfd2	T	C	5: 74,691,838 (GRCm39)	N148S	probably damaging	Het
Scin	C	T	12: 40,131,705 (GRCm39)	M276I	probably benign	Het
Sec24d	T	C	3: 123,147,255 (GRCm39)	I708T	possibly damaging	Het
Skint11	T	A	4: 114,086,009 (GRCm39)	F41I	possibly damaging	Het
Slc15a4	A	T	5: 127,694,303 (GRCm39)	F44Y	possibly damaging	Het
Slc7a11	A	T	3: 50,332,195 (GRCm39)		probably null	Het
Slc7a14	G	T	3: 31,291,650 (GRCm39)	N209K	possibly damaging	Het
Sstr2	T	C	11: 113,515,257 (GRCm39)	C59R	probably damaging	Het
Stab1	A	G	14: 30,884,997 (GRCm39)		probably null	Het
Stag1	G	T	9: 100,748,263 (GRCm39)	S475I	probably damaging	Het
Stxbp5l	A	G	16: 36,936,029 (GRCm39)	Y1183H	probably damaging	Het
Svep1	A	T	4: 58,135,628 (GRCm39)		probably null	Het
Tm9sf2	A	G	14: 122,396,096 (GRCm39)	T653A	probably benign	Het
Tmeff1	T	C	4: 48,662,059 (GRCm39)	S366P	possibly damaging	Het
Tnnt2	G	T	1: 135,779,803 (GRCm39)	W300L	probably damaging	Het
Traj32	A	G	14: 54,423,560 (GRCm39)		probably benign	Het
Trp53bp2	A	T	1: 182,269,204 (GRCm39)	M223L	probably benign	Het
Tsga10	G	A	1: 37,854,758 (GRCm39)	T246M	probably damaging	Het
Txn2	A	T	15: 77,810,870 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,768,542 (GRCm39)	F450I	probably damaging	Het
Usp47	T	C	7: 111,703,677 (GRCm39)		probably null	Het
Vars2	C	T	17: 35,975,685 (GRCm39)	R244Q	probably damaging	Het
Xrra1	T	A	7: 99,546,803 (GRCm39)	F251L	probably damaging	Het
Zfp804a	G	A	2: 82,087,863 (GRCm39)	R564Q	probably benign	Het
Zfp983	T	C	17: 21,877,883 (GRCm39)	C29R	probably damaging	Het

Other mutations in Slc6a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Slc6a18	APN	13	73,819,838 (GRCm39)	missense	possibly damaging	0.82
IGL01370:Slc6a18	APN	13	73,815,150 (GRCm39)	missense	probably damaging	1.00
IGL01959:Slc6a18	APN	13	73,825,984 (GRCm39)	missense	probably damaging	1.00
IGL02096:Slc6a18	APN	13	73,820,870 (GRCm39)	missense	probably benign	0.05
IGL02147:Slc6a18	APN	13	73,816,281 (GRCm39)	missense	probably damaging	0.97
IGL02167:Slc6a18	APN	13	73,814,591 (GRCm39)	critical splice acceptor site	probably null
IGL02465:Slc6a18	APN	13	73,825,904 (GRCm39)	missense	probably benign	0.11
IGL02548:Slc6a18	APN	13	73,818,114 (GRCm39)	missense	probably damaging	1.00
IGL02720:Slc6a18	APN	13	73,818,087 (GRCm39)	missense	probably benign	0.16
IGL03341:Slc6a18	APN	13	73,826,042 (GRCm39)	missense	probably benign	0.07
R0011:Slc6a18	UTSW	13	73,813,738 (GRCm39)	missense	possibly damaging	0.59
R0219:Slc6a18	UTSW	13	73,822,751 (GRCm39)	splice site	probably null
R0884:Slc6a18	UTSW	13	73,815,156 (GRCm39)	missense	probably damaging	1.00
R1019:Slc6a18	UTSW	13	73,825,998 (GRCm39)	missense	probably damaging	1.00
R1610:Slc6a18	UTSW	13	73,816,344 (GRCm39)	missense	probably benign	0.10
R1901:Slc6a18	UTSW	13	73,818,162 (GRCm39)	missense	probably benign	0.39
R1969:Slc6a18	UTSW	13	73,812,308 (GRCm39)	missense	possibly damaging	0.66
R2014:Slc6a18	UTSW	13	73,823,844 (GRCm39)	missense	probably benign	0.02
R2445:Slc6a18	UTSW	13	73,814,871 (GRCm39)	nonsense	probably null
R3125:Slc6a18	UTSW	13	73,825,921 (GRCm39)	missense	probably damaging	1.00
R4084:Slc6a18	UTSW	13	73,815,148 (GRCm39)	missense	probably benign	0.39
R4571:Slc6a18	UTSW	13	73,814,489 (GRCm39)	missense	possibly damaging	0.59
R4735:Slc6a18	UTSW	13	73,814,554 (GRCm39)	missense	probably benign	0.42
R5032:Slc6a18	UTSW	13	73,814,442 (GRCm39)	missense	probably damaging	1.00
R5859:Slc6a18	UTSW	13	73,816,278 (GRCm39)	missense	probably benign	0.01
R6258:Slc6a18	UTSW	13	73,818,164 (GRCm39)	nonsense	probably null
R6350:Slc6a18	UTSW	13	73,826,044 (GRCm39)	missense	possibly damaging	0.80
R6370:Slc6a18	UTSW	13	73,816,278 (GRCm39)	missense	probably benign	0.21
R6640:Slc6a18	UTSW	13	73,812,401 (GRCm39)	missense	possibly damaging	0.95
R6747:Slc6a18	UTSW	13	73,826,110 (GRCm39)	start gained	probably benign
R7267:Slc6a18	UTSW	13	73,819,755 (GRCm39)	missense	probably damaging	1.00
R7702:Slc6a18	UTSW	13	73,820,915 (GRCm39)	missense	probably damaging	1.00
R8039:Slc6a18	UTSW	13	73,813,745 (GRCm39)	missense	probably benign	0.39
R8423:Slc6a18	UTSW	13	73,813,693 (GRCm39)	missense	probably benign	0.00
R8669:Slc6a18	UTSW	13	73,812,430 (GRCm39)	missense	probably benign	0.01
R8825:Slc6a18	UTSW	13	73,813,751 (GRCm39)	missense	probably null	0.01
R8993:Slc6a18	UTSW	13	73,816,390 (GRCm39)	missense	probably benign	0.01
R9023:Slc6a18	UTSW	13	73,823,889 (GRCm39)	missense	probably damaging	1.00
R9031:Slc6a18	UTSW	13	73,819,822 (GRCm39)	missense	possibly damaging	0.56
R9589:Slc6a18	UTSW	13	73,816,323 (GRCm39)	missense	possibly damaging	0.66
Z1177:Slc6a18	UTSW	13	73,825,979 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGCCATGTCTCTCACCATAGG -3'
(R):5'- AACTCCTGAGGCCTCTGTTG -3'

Sequencing Primer
(F):5'- ATAGGTGTGCCCCACTGACAC -3'
(R):5'- CTGGTAATGTCAAAGTACATGCTGGC -3'

Posted On

2014-12-04